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Aliases for HPSE2 Gene

Aliases for HPSE2 Gene

  • Heparanase 2 (Inactive) 2 3 5
  • HPA2 3 4
  • Heparanase-Like Protein 3
  • Urofacial Syndrome 2
  • Heparanase 2 2
  • Heparanase 3 3
  • HPR2 3
  • UFS1 3
  • UFS 3

External Ids for HPSE2 Gene

Previous HGNC Symbols for HPSE2 Gene

  • UFS

Previous GeneCards Identifiers for HPSE2 Gene

  • GC10M099112
  • GC10M099452
  • GC10M100350
  • GC10M099883
  • GC10M100208
  • GC10M093841

Summaries for HPSE2 Gene

Entrez Gene Summary for HPSE2 Gene

  • This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for HPSE2 Gene

HPSE2 (Heparanase 2 (Inactive)) is a Protein Coding gene. Diseases associated with HPSE2 include Urofacial Syndrome 1 and Hpse2-Related Urofacial Syndrome. Among its related pathways are Glycosaminoglycan degradation and Glycosaminoglycan metabolism. GO annotations related to this gene include heparan sulfate proteoglycan binding and heparanase activity. An important paralog of this gene is HPSE.

UniProtKB/Swiss-Prot for HPSE2 Gene

  • Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).

Gene Wiki entry for HPSE2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPSE2 Gene

Genomics for HPSE2 Gene

Regulatory Elements for HPSE2 Gene

Enhancers for HPSE2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HPSE2 on UCSC Golden Path with GeneCards custom track

Promoters for HPSE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HPSE2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HPSE2 Gene

Chromosome:
10
Start:
98,457,077 bp from pter
End:
99,235,875 bp from pter
Size:
778,799 bases
Orientation:
Minus strand

Genomic View for HPSE2 Gene

Genes around HPSE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPSE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPSE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPSE2 Gene

Proteins for HPSE2 Gene

  • Protein details for HPSE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWQ2-HPSE2_HUMAN
    Recommended name:
    Inactive heparanase-2
    Protein Accession:
    Q8WWQ2
    Secondary Accessions:
    • Q5VUH4
    • Q5VUH5
    • Q5VUH6
    • Q8WWQ1
    • Q9HB37
    • Q9HB38
    • Q9HB39

    Protein attributes for HPSE2 Gene

    Size:
    592 amino acids
    Molecular mass:
    66596 Da
    Quaternary structure:
    • Interacts with HPSE. Interacts with SDC1 (via glycan chains).

    Alternative splice isoforms for HPSE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPSE2 Gene

Proteomics data for HPSE2 Gene at MOPED

Post-translational modifications for HPSE2 Gene

  • Glycosylation at Asn 254 and Asn 392
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HPSE2 Gene

Domains & Families for HPSE2 Gene

Protein Domains for HPSE2 Gene

Suggested Antigen Peptide Sequences for HPSE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWQ2

UniProtKB/Swiss-Prot:

HPSE2_HUMAN :
  • Belongs to the glycosyl hydrolase 79 family.
Family:
  • Belongs to the glycosyl hydrolase 79 family.
genes like me logo Genes that share domains with HPSE2: view

No data available for Gene Families for HPSE2 Gene

Function for HPSE2 Gene

Molecular function for HPSE2 Gene

UniProtKB/Swiss-Prot Function:
Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).
genes like me logo Genes that share phenotypes with HPSE2: view

Human Phenotype Ontology for HPSE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HPSE2 Gene

Localization for HPSE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPSE2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HPSE2 Gene COMPARTMENTS Subcellular localization image for HPSE2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HPSE2 Gene

Pathways & Interactions for HPSE2 Gene

genes like me logo Genes that share pathways with HPSE2: view

Interacting Proteins for HPSE2 Gene

Gene Ontology (GO) - Biological Process for HPSE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008150 biological_process ND --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HPSE2: view

No data available for SIGNOR curated interactions for HPSE2 Gene

Drugs & Compounds for HPSE2 Gene

(1) Additional Compounds for HPSE2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with HPSE2: view

Transcripts for HPSE2 Gene

mRNA/cDNA for HPSE2 Gene

(10) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HPSE2 Gene

Heparanase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HPSE2 Gene

No ASD Table

Relevant External Links for HPSE2 Gene

GeneLoc Exon Structure for
HPSE2
ECgene alternative splicing isoforms for
HPSE2

Expression for HPSE2 Gene

mRNA expression in normal human tissues for HPSE2 Gene

mRNA differential expression in normal tissues according to GTEx for HPSE2 Gene

This gene is overexpressed in Esophagus - Muscularis (x6.9) and Esophagus - Gastroesophageal Junction (x5.7).

Protein differential expression in normal tissues from HIPED for HPSE2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HPSE2 Gene



SOURCE GeneReport for Unigene cluster for HPSE2 Gene Hs.500750

mRNA Expression by UniProt/SwissProt for HPSE2 Gene

Q8WWQ2-HPSE2_HUMAN
Tissue specificity: Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal chord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues.
genes like me logo Genes that share expression patterns with HPSE2: view

Protein tissue co-expression partners for HPSE2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HPSE2 Gene

Orthologs for HPSE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HPSE2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HPSE2 35
  • 96.17 (n)
  • 98.99 (a)
dog
(Canis familiaris)
Mammalia HPSE2 35
  • 95.33 (n)
  • 98.82 (a)
HPSE2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hpse2 35
  • 93.19 (n)
  • 97.47 (a)
Hpse2 16
Hpse2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HPSE2 35
  • 99.72 (n)
  • 100 (a)
HPSE2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hpse2 35
  • 89.08 (n)
  • 91.05 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HPSE2 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves HPSE2 35
  • 80.47 (n)
  • 88.14 (a)
HPSE2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPSE2 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hpse2 35
  • 75.29 (n)
  • 83.73 (a)
zebrafish
(Danio rerio)
Actinopterygii hpse2 35
  • 69.96 (n)
  • 77.47 (a)
hpse2 36
  • 71 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for HPSE2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HPSE2 Gene

ENSEMBL:
Gene Tree for HPSE2 (if available)
TreeFam:
Gene Tree for HPSE2 (if available)

Paralogs for HPSE2 Gene

Paralogs for HPSE2 Gene

(1) SIMAP similar genes for HPSE2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HPSE2: view

Variants for HPSE2 Gene

Sequence variations from dbSNP and Humsavar for HPSE2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10883100 - 98,459,617(+) CCACA(A/T)AAAAG downstream-variant-500B, reference, missense, utr-variant-3-prime
rs17110744 - 98,721,670(+) GAGGG(C/T)GATGA nc-transcript-variant, reference, missense
rs1418551 -- 99,131,122(+) AGCAG(C/T)TGAGG intron-variant
rs1444801 -- 98,896,541(+) gaaaa(C/G)agaaa intron-variant
rs1444802 -- 98,897,518(+) ATTAA(C/T)AGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HPSE2 Gene

Variant ID Type Subtype PubMed ID
nsv831955 CNV Gain 17160897
nsv831956 CNV Loss 17160897
nsv517710 CNV Gain+Loss 19592680
nsv520353 CNV Gain 19592680
nsv7511 CNV Loss 18451855
esv1004375 CNV Deletion 20482838
nsv7209 OTHER Inversion 18451855
esv1474285 CNV Insertion 17803354
esv23306 CNV Loss 19812545
esv25039 CNV Loss 19812545
esv2482496 CNV Deletion 19546169
esv2740017 CNV Deletion 23290073
esv2448524 OTHER Inversion 19546169
nsv436692 OTHER Inversion 17901297
nsv513014 CNV Insertion 21212237
dgv165e199 CNV Deletion 23128226
esv2740029 CNV Deletion 23290073
esv2740040 CNV Deletion 23290073
esv2674577 CNV Deletion 23128226
nsv831957 CNV Gain 17160897
nsv507573 CNV Insertion 20534489
nsv825536 CNV Loss 20364138
nsv825537 CNV Loss 20364138
nsv508602 CNV Loss 20534489
nsv7513 CNV Loss 18451855
esv32597 CNV Gain+Loss 17666407
dgv8n50 CNV Loss 21212237
esv2522473 CNV Loss 19546169
esv26720 CNV Loss 19812545
nsv498739 CNV Loss 21111241
nsv825538 CNV Loss 20364138
nsv514537 CNV Loss 21397061
nsv436820 CNV Insertion 17901297
nsv518822 CNV Gain 19592680
esv2665040 CNV Deletion 23128226
nsv521748 CNV Gain 19592680
nsv7514 CNV Loss 18451855

Variation tolerance for HPSE2 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPSE2 Gene

Human Gene Mutation Database (HGMD)
HPSE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPSE2 Gene

Disorders for HPSE2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HPSE2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
urofacial syndrome 1
  • urofacial syndrome
hpse2-related urofacial syndrome
  • urofacial syndrome 1
uterine benign neoplasm
reproductive organ benign neoplasm
endometriosis of uterus
  • endometriosis interna
- elite association - COSMIC cancer census association via MalaCards
Search HPSE2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPSE2_HUMAN
  • Urofacial syndrome 1 (UFS1) [MIM:236730]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. {ECO:0000269 PubMed:20560209, ECO:0000269 PubMed:20560210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HPSE2

Genetic Association Database (GAD)
HPSE2
Human Genome Epidemiology (HuGE) Navigator
HPSE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPSE2
genes like me logo Genes that share disorders with HPSE2: view

No data available for Genatlas for HPSE2 Gene

Publications for HPSE2 Gene

  1. Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member. (PMID: 11027606) McKenzie E. … Page M. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23 67
  2. Mutations in HPSE2 cause urofacial syndrome. (PMID: 20560210) Daly S.B. … Newman W.G. (Am. J. Hum. Genet. 2010) 2 3
  3. Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity. (PMID: 20576607) Levy-Adam F. … Vlodavsky I. (J. Biol. Chem. 2010) 2 3
  4. Heparanase-2 expression in normal ovarian epithelium and in benign and malignant ovarian tumors. (PMID: 19955924) de Moura J.P. … de Lima G.R. (Int. J. Gynecol. Cancer 2009) 3 23
  5. Decidual heparanase activity is increased during pregnancy in the baboon (Papio anubis) and in in vitro decidualization of human stromal cells. (PMID: 17989358) D'Souza S.S. … Carson D.D. (Biol. Reprod. 2008) 3 23

Products for HPSE2 Gene

Sources for HPSE2 Gene

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